Sandra Louzada

This study characterizes HSat1B across primates, showing its evolutionary origin linked to transposable elements and lineage-specific expansion in Homininae.

The paper analyzes 1,375 Malawi cichlid genomes to show that sex-linked chromosomal inversions drive adaptive speciation through introgression and selection on neuro-sensory, physiological, and reproductive genes.

This study analyzes HSAT1 satellite DNA, showing its transcription in human cells and identifying size-varying polyadenylated transcripts.

The paper analyzes structural variation in the glycophorin gene cluster across 6466 genomes, identifies 15 known and 9 new variants, and links structural variants to recombination hotspots.

This paper corrects FKRP mutations in iPSCs using CRISPR/Cas9, restoring functional glycosylation of α-dystroglycan in cortical neurons and validating the role of FKRP in dystroglycanopathies.

The paper shows that targeting tandem amplified regions in CRISPR-Cas9 screens reduces cellular fitness, while chromosomal duplications have minimal effects.

The paper identifies DUP4, a structural variant associated with reduced malaria risk and higher hemoglobin levels in a Tanzanian population.

This paper presents improved assemblies and gene annotations for the pig X and Y chromosomes, revealing evolutionary mechanisms and gene content differences compared to other mammals.

This study investigates the HSFY gene family in pigs and other suids, finding two amplified variants with potential roles in spermatogenesis and fertility.